Heterozygous Actg2 R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.

Hui Cai,Yongtao Xiao,Shanshan Chen,Ying Lu,Jun Du,Yaying You, Jing Zhu,Jie Zhou,Wei Cai,Ying Wang

Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society（2023）

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摘要

A mouse model demonstrating MMIHS-like symptoms was generated. The Actg2 heterozygous variant impairs SMCs contraction by interfering with actin polymerization, leading to GI motility disorders.

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关键词

ACTG2,CRISPR/Cas9,actin polymerization,megacystis microcolon intestinal hypoperistalsis syndrome

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